Immunological and genetic characterization of the deficiency of the component C5 of the human complement system. / Caracterização imunológica e genética da deficiência do componente C5 do sistema complemento humano.

AUTOR(ES)
DATA DE PUBLICAÇÃO

2007

RESUMO

The deficiency of the C5 component of the complement system is rare with 38 described cases in the literature. This deficiency is frequently associated with severe infections, especially caused by Neisseria. Our objective is to characterize immunologically and genetically this deficiency, the first of its type described in the Brazilian population.We noted that C3, C4, C6, C7, C8, C9, Factor B, Factor H and Factor I have expressive levels in all the individuals sera of this family. C5 was absent in individuals II:4, II:5 and II:9. By ELISA a C5 concentration in this individuals were 0,9; 1,0; 1,3 µg/ml (normal: 45 - 190 µg/ml). Their serum doesn´t present hemolytic activity mediated by complement system. The C5 cDNA from individuals I:1, I:2, II:4 and II:9 has éxon 30 deleted. Caused by the substitution of GAG4028 for a GAA4028 in the last codon of exon 30. This defect was responsible for the deficiency of C5 in this family and this deletion would probably produce an unstable protein destined for degradation.

ASSUNTO(S)

imunogenético immune system infecções bacterianas gram (-) negative complemento complement bacterial infections gram negative protein c5 proteína c5 immunogenetics sistema imune immunodeficiency imunodeficiência

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